← 返回搜尋

Short stature-craniofacial anomalies-genital hypoplasia syndrome

ORPHA:2994 · Malformation syndrome · Disorder

HPO 表現型（共 28 項）

Very frequent (99-80%)(13)

  • Abnormal retinal vascular morphologyHP:0008046
  • Amniotic constriction ringHP:0009775
  • Delayed pubertyHP:0000823
  • EpicanthusHP:0000286
  • Flat faceHP:0012368
  • Frontal bossingHP:0002007
  • High hypermetropiaHP:0008499
  • Intellectual disabilityHP:0001249
  • MicroretrognathiaHP:0000308
  • MicrotiaHP:0008551
  • Posteriorly rotated earsHP:0000358
  • Short statureHP:0004322
  • TrigonocephalyHP:0000243

Frequent (79-30%)(10)

  • Abnormal cardiovascular system morphologyHP:0030680
  • Abnormality of the dentitionHP:0000164
  • ArachnodactylyHP:0001166
  • Cleft palateHP:0000175
  • Finger syndactylyHP:0006101
  • HypertelorismHP:0000316
  • HypothyroidismHP:0000821
  • Limitation of joint mobilityHP:0001376
  • MicrocephalyHP:0000252
  • Short neckHP:0000470

Occasional (29-5%)(5)

  • Camptodactyly of fingerHP:0100490
  • Downslanted palpebral fissuresHP:0000494
  • Ectopic anusHP:0004397
  • Short distal phalanx of fingerHP:0009882
  • Triphalangeal thumbHP:0001199